TelomeraseClear cell renal cell carcinoma (ccRCC) displays sex-biased incidence, outcomes, molecular alterations and treatment efficacy; however, clinical managements are largely identical in male and female patients. Moreover, many biomarkers have been identified as predictors for ccRCC outcomes and ...
Pathogenic DKC1 mutations and dyskerin depletion induce both TERC destabilization with a loss of telomerase activity [3] and a defective rRNA pseudouridylation [2,11,12,13], associated with changes in mRNA translation which end up with specific alterations in gene expression. Such changes involve ...
Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. Tissue Specificity: Ubiquitously expressed. Involvement in Disease: Dyskeratosis congenita, X-linked: A rare, progressive bone marrow failure syndrome ...
DKC1 performs two fundamental functions for cell proliferation. First, DKC1 is a component of the H/ACA small nucleolar ribonucleoprotein particles (snoRNPs) involved the pseudouridylation of ribosomal RNA (rRNA) molecules and necessary for their processing. Second, it is required for telomerase act...
Mutations in DKC1, encoding for dyskerin, a pseudouridine synthase that modifies rRNA and regulates telomerase activity, are associated with ribosomal dysf... C Bellodi,O Krasnykh,N Haynes,... - 《Cancer Research》 被引量: 179发表: 2010年 ...
Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a proliferative defect leads to cancer. J Pathol. 2010;222:345–9.Montanaro L (2010) Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a ...
Dyskerin, which is an important component of the telomerase complex and is needed for normal telomerase activity, is frequently overexpressed in neoplasia. Dyskerin also plays an essential role in ribosome biogenesis. Because protein synthesis increases during tumorigenesis, this led us to hypothesize ...
Signs and symptoms of DKC; Function of telomerase; How a mutation of dyskerin could cause a deficiency in telomerase.ShayJerryW.WrightWoodringE.EBSCO_AspScienceShay,J.W. and Wright,W.E. (1999) Mutant dyskerin ends relationship with telomerase. Science, 286, 2284±2285....
Decreased dyskerin levels were associated with compromised telomerase RNA levels and very short telomeres. These data identify decreased dyskerin levels as a novel mechanism of DC, and indicate that intact dyskerin levels, in the absence of coding mutations, are critical for telomerase RNA stability ...
A dyskerin motif reactivates telomerase activity in X-linked dyskeratosis congenita and in telomerase-deficient human cells. Blood. 2007; 111:2606-2614. [PubMed: 18057229]Machado-Pinilla, R., Sanchez-Perez, I., Murguia, J.R., Sastre, L., and Perona, R. 2008. A dyskerin motif ...